A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004999



Internal ID18747530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:169932592..169991408hg38UCSC Ensembl
Innerchr1:169901733..169960549hg19UCSC Ensembl
Innerchr1:168168357..168227173hg18UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg3858817
hg1958817
hg1858817
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv462n100
Supporting Variantsnssv3489797
Samples
Known GenesKIFAP3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1004999
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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